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Utah baby's rare condition found in updated newborn screening test

By Wendy Leonard  |  Posted Oct 25th, 2014 @ 2:37pm


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SALT LAKE CITY — A fairly recent addition to Utah's newborn screening protocol has detected its first case of a rare but sometimes fatal condition.

And because severe combined immunodeficiency, or SCID, was identified early, 6-week-old Calla Hauenstein is healthy and expecting a bone marrow transplant that will most likely protect her life.

"It's a little surreal because we're sitting there holding a healthy child, and you have no idea she is sick, and really she's facing kind of a life-threatening illness," Calla's mom, Jody Bell said Thursday.

Bell said the family never gave newborn screening — a simple blood test performed by pricking a baby's heel for a drop of blood — a second thought, but they're grateful now that it is done routinely in Utah hospitals and has perhaps saved their daughter's life.

Babies with SCID don't show any signs of sickness but seem completely healthy until they contract an infection.

"These kids don't have T-cells, and T-cells are something that protect us from viruses or help us fight the common cold, and when kids can't do this, they become very sick," said Kim Hart, Utah Department of Health newborn screening program manager.

Hart said that without proper screening, baby Calla could have gone home, gotten a cold and then gone through weeks, months or years of doctor's visits, not knowing why she was so sick.

(Photo: Hauenstein Family)

The disorder could have proven fatal for her, as well.

Every baby born in Utah is required by law to have a newborn screen, which now tests for 38 conditions, including certain metabolic, endocrine and hematological disorders. It is typically done between the first 48 hours to five days after birth and then again at two weeks of age. Parents are promptly notified, and further testing is conducted if any of the results are questionable.

"Identifying and treating infants with these disorders early can help ensure a long, healthy life, so it is important to get these tests done correctly and on time," the program's website, health.utah.gov/newbornscreening, states.

Hart said the newborn screening fortunately caught Calla's condition before anything was ever wrong with her.

"Now she's growing and developing and eating and in the process of getting worked up for a bone marrow transplant," said Calla's pediatrician, Dr. Karin Chen.

The procedure is the only treatment available for SCID and is most effective the earlier it is conducted, preferably before a child reaches age 3 or contracts any infections.


This is an effective way to screen infants so that we can keep them healthy and treat them properly before they develop severe infection. We are excited this has turned out so well for the family involved.

–Dr. Karin Chen, Primary Children's Hospital pediatricain


In addition to being a physician at Primary Children's Hospital, Chen is an assistant professor in the division of allergy, immunology and rheumatology at the University of Utah and has been very involved in adding SCID to the newborn screening panel in Utah.

Lawmakers approved the disorder to be added to the list of conditions screened, and routine testing began July 1, 2013.

"This is an effective way to screen infants so that we can keep them healthy and treat them properly before they develop severe infection," Chen said. "We are excited this has turned out so well for the family involved."

The prevalence of SCID was thought to occur in 1 of every 100,000 babies, but newborn screening has shown that more children are being diagnosed — to the tune of 1 in every 50,000, according to the Utah Department of Health.

"Before the advent of newborn screening, babies were born and looked healthy and would develop a severe infection that puts them at risk for death," Chen said.

Having the information early on, she said, helps families avoid often complicated medical courses for a child with SCID.

Neither parent was a match for Calla, but an anonymous donor was found for her pending bone marrow transplant. It is anticipated that the operation will happen in early November at Primary Children's Hospital, where Calla is staying in isolation.

(Photo: Hauenstein Family)

The family should be able to be home together before Christmas.

"This anonymous person is essentially saving our child's life," said Logan Hauenstein, Calla's dad. "I feel kind of helpless. There's nothing I can do except hold our baby, but I can encourage anyone who is able and willing to donate their bone marrow, to register at bethematch.org."

"There's like a 1 in 500 chance of ever being called, but you could save a person's life," he said.

Of the approximately 61,000 newborns screened for SCID so far in Utah, Calla is the first to have a positive test result.

Her parents recently moved from Maryland, which doesn't yet screen for SCID, and they say they are grateful for the circumstance.

"We just assumed, like most people, that it didn't apply to us," Bell said. "We're so thankful that people have advocated for this. And that it probably saved our baby's life."

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